GABRR3[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 3097885	NM_001105580.3(GABRR3):c.1376A>G (p.Asn459Ser)	GABRR3 (N459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097883	NM_001105580.3(GABRR3):c.1364A>G (p.Tyr455Cys)	GABRR3 (Y455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097882	NM_001105580.3(GABRR3):c.1304T>A (p.Ile435Asn)	GABRR3 (I435N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097881	NM_001105580.3(GABRR3):c.1111A>G (p.Arg371Gly)	GABRR3 (R371G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540406	NM_001105580.3(GABRR3):c.1004G>T (p.Trp335Leu)	GABRR3 (W335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219816	NM_001105580.3(GABRR3):c.955G>A (p.Ala319Thr)	GABRR3 (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481564	NM_001105580.3(GABRR3):c.947C>G (p.Ala316Gly)	GABRR3 (A316G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280436	NM_001105580.3(GABRR3):c.914C>T (p.Thr305Ile)	GABRR3 (T305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280435	NM_001105580.3(GABRR3):c.785T>A (p.Val262Glu)	GABRR3 (V262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097891	NM_001105580.3(GABRR3):c.780C>A (p.Asn260Lys)	GABRR3 (N260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257675	NM_001105580.3(GABRR3):c.769C>T (p.Leu257Phe)	GABRR3 (L257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344671	NM_001105580.3(GABRR3):c.736G>T (p.Ala246Ser)	GABRR3 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546034	NM_001105580.3(GABRR3):c.722C>A (p.Ala241Glu)	GABRR3 (A241E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407817	NM_001105580.3(GABRR3):c.686T>C (p.Met229Thr)	GABRR3 (M229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338473	NM_001105580.3(GABRR3):c.615T>A (p.Tyr205Ter)	GABRR3 (Y205*)	Single nucleotide variant (nonsense)	Restless legs	GLikely risk allele
Select item 2610078	NM_001105580.3(GABRR3):c.605T>A (p.Leu202Gln)	GABRR3 (L202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206388	NM_001105580.3(GABRR3):c.584C>T (p.Thr195Ile)	GABRR3, LOC129937107 (T195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280434	NM_001105580.3(GABRR3):c.557T>C (p.Met186Thr)	GABRR3, LOC129937107 (M186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097890	NM_001105580.3(GABRR3):c.536C>T (p.Thr179Met)	GABRR3, LOC129937107 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280437	NM_001105580.3(GABRR3):c.496G>T (p.Val166Leu)	GABRR3 (V166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097889	NM_001105580.3(GABRR3):c.496G>A (p.Val166Ile)	GABRR3 (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280430	NM_001105580.3(GABRR3):c.494G>A (p.Arg165His)	GABRR3 (R165H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516862	NM_001105580.3(GABRR3):c.428A>T (p.Asp143Val)	GABRR3 (D143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097888	NM_001105580.3(GABRR3):c.427G>T (p.Asp143Tyr)	GABRR3 (D143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324219	NM_001105580.3(GABRR3):c.427G>A (p.Asp143Asn)	GABRR3 (D143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517088	NM_001105580.3(GABRR3):c.346G>T (p.Asp116Tyr)	GABRR3 (D116Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378327	NM_001105580.3(GABRR3):c.301A>G (p.Asn101Asp)	GABRR3 (N101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097887	NM_001105580.3(GABRR3):c.248T>C (p.Val83Ala)	GABRR3 (V83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149088	GRCh38/hg38 3q11.2(chr3:98023760-98332789)x1	GABRR3, LOC112935965 +10 more	Copy number loss	See cases	GLikely benign
Select item 3097886	NM_001105580.3(GABRR3):c.222G>A (p.Met74Ile)	GABRR3 (M74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204404	NM_001105580.3(GABRR3):c.211G>A (p.Asp71Asn)	GABRR3 (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598760	NM_001105580.3(GABRR3):c.200T>C (p.Ile67Thr)	GABRR3 (I67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408065	NM_001105580.3(GABRR3):c.182A>T (p.Tyr61Phe)	GABRR3 (Y61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358212	NM_001105580.3(GABRR3):c.170G>T (p.Arg57Leu)	GABRR3 (R57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280431	NM_001105580.3(GABRR3):c.169C>T (p.Arg57Trp)	GABRR3 (R57W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508173	NM_001105580.3(GABRR3):c.167C>T (p.Ala56Val)	GABRR3 (A56V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228034	NM_001105580.3(GABRR3):c.141A>T (p.Arg47Ser)	GABRR3 (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545709	NM_001105580.3(GABRR3):c.85A>G (p.Met29Val)	GABRR3 (M29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249392	NM_001105580.3(GABRR3):c.80T>C (p.Ile27Thr)	GABRR3 (I27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280432	NM_001105580.3(GABRR3):c.17A>G (p.Gln6Arg)	GABRR3 (Q6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2685087	GRCh37/hg19 3q11.2(chr3:97542156-98076080)x1	CRYBG3, GABRR3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808444	GRCh37/hg19 3q11.2(chr3:97377527-97805568)x3	ARL6, CRYBG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 814464	GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3	GABRR3, OR5H1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443897	GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3	CRYBG3, GABRR3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394830	GRCh37/hg19 3q11.2(chr3:97631081-97736465)x1	CRYBG3, GABRR3 +1 more	Copy number loss	See cases	GUncertain significance

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Items: 60